Canonical Allele Identifier: CA432960257

Gene: GLB1

Linked Data

• ClinVar Variation Id: 2921979
• ClinVar RCV Id: RCV003783001
• gnomAD v4: 3-32997180-T-A
• MyVariant Identifiers: chr3:g.33038672T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.32997180T>A , CM000665.2:g.32997180T>A	GRCh38
NC_000003.11:g.33038672T>A , CM000665.1:g.33038672T>A	GRCh37
NC_000003.10:g.33013676T>A	NCBI36
NG_009005.1:g.105023A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.1899A>T MANE Select	ENSP00000306920.4:p.Leu633=
ENST00000307363.9:c.1899A>T	ENSP00000306920.4:p.Leu633=
ENST00000307377.12:c.1506A>T	ENSP00000305920.8:p.Leu502=
ENST00000399402.7:c.1809A>T	ENSP00000382333.2:p.Leu603=
NM_000404.2:c.1899A>T	NP_000395.2:p.Leu633=
NM_000404.3:c.1899A>T	NP_000395.2:p.Leu633=
NM_001079811.1:c.1809A>T	NP_001073279.1:p.Leu603=
NM_001079811.2:c.1809A>T	NP_001073279.1:p.Leu603=
NM_001135602.1:c.1506A>T	NP_001129074.1:p.Leu502=
NM_001135602.2:c.1506A>T	NP_001129074.1:p.Leu502=
NM_001317040.1:c.2043A>T	NP_001303969.1:p.Leu681=
NM_000404.4:c.1899A>T MANE Select	NP_000395.3:p.Leu633=
NM_001079811.3:c.1809A>T	NP_001073279.2:p.Leu603=
NM_001135602.3:c.1506A>T	NP_001129074.2:p.Leu502=
NM_001317040.2:c.2043A>T	NP_001303969.2:p.Leu681=
NM_001393580.1:c.1734+16876A>T	NP_001380509.1:n.1734+16876A>T